Table 1.
Clinical, neuropathological and genetic features of the patient cohort
| Patient ID | Neuropathology | Gene | Mutation; VAF | Age at seizure onset | Age at surgery | Surgical topography |
|---|---|---|---|---|---|---|
| Cases | ||||||
| 1 (FCD-64) | FCDIIb | TSC1 | p.E636fs*51; 3.7% | 18 m | 4 y | Frontal |
| 2 (FCD-33) | FCDIIa | DEPDC5 | 2-hit: p.R286* (germline); Q289* (10% somatic) | 1.2 y | 6.75 y | Frontal |
| 3 (FCD-56) | FCDIIb | MTOR | p.T1977K; 5.5% | 8 m | 16.1 y | Fronto-parietal |
| 4 (FCD-57) | FCDIIb | MTOR | p.S2215F; 1.3% | 4.5 m | 9.1 y | Temporo-parietal |
| 5 (FCD-59) | FCDIIb | MTOR | p.S2215F, 3.4% | 16 m | 13 y | Frontal |
| 6 (FCD-61) | FCDIIb | MTOR | p.S2215Y; 3.7% | 2 m | 6.7 y | Parietal |
| 7 (FCD-70) | FCDIIb | Panel-neg | N/A | 2.5 y | 16.1 y | Frontal |
| 8 | FCDIIb | MTOR | p.A1459P; 2% | 18 m | 16.8 y | Frontal |
| 9 | FCDIIb | AKT3 | p.E17K; 1% | 14 y | 42 y | Frontal |
| 10 (FCD-36) | HME/IIa | DEPDC5 | 2-hit: c.3021+1 G > A (germline); LOH (somatic) | 1d | 3 m | Frontala |
| 11 (HME-73) | HME/IIb | MTOR | p.A1459D; 9.2% | 1d | 3 m | Frontala |
| 12 (HME-74) | HME/IIa | AKT3 | p.E17K; 12% | 5d | 1.3 y | Frontala |
| 13 (HME-77) | HME/IIa | PIK3CA | p.H1047R; 21.2% | 15d | 6 m | Frontala |
| 14 (HME-79) | HME/IIb | RHEB | p.Y35L; 17.6% | 3d | 5 m | Frontala |
| 21 | FCDIIa | MTOR | p.S2215Y; 0.9% | 2 m | 7 y | Temporal |
| 22 | FCDIIb | MTOR | p.S2215F; 2% | 6 m | 2.1 y | Fronto-temporal |
| 23 | FCDIIb | MTOR | p.L1460P; 1.4% | 5 y | 12 y | Frontal |
| 24 | FCDIIb | MTOR | p.S2215Y; 4.8% | 6.3 y | 10 y | Frontal |
| 25 | FCDIIb | MTOR | p.S2215Y; 1.39% | 20 m | 8.5 y | Temporal |
| 26 | FCDIIb | MTOR | p.A1459D; 3.45% | 13 m | 5 y | Fronto-insular |
| 27 (FCD-65) | FCDIIb | TSC2 | p.R1743Q; 1.5% | 2 y | 4.75 y | Frontal |
| 28 | FCDIIb | TSC2 | p.Q404*; 2% | 2 m | 11 m | Operculo-insular |
| 29 | FCDIIa | AKT3 | p.E17K; 7.39% | 15d | 1.2 y | Frontal |
| 30 | FCDIIb | MTOR | p.A1459D; 1.93% | 7 y | 18 y | Frontal |
| Epileptic controls | ||||||
| 15 (FCD-16) | FCDI | Panel-neg | N/A | 1.8 y | 3.8 y | Temporal |
| 16 (FCD-13) | mMCD | Panel-neg | N/A | 1.7 y | 10.5 y | Temporal |
| 17 (FCD-18) | FCDI | Panel-neg | N/A | 2 y | 5.4 y | Occipital |
| 18 (FCD-7) | mMCD | Panel-neg | N/A | 5 m | 5.7 y | Temporal |
| 19 (FCD-12) | FCDI | Panel-neg | N/A | 13 y | 16.5 y | Frontal |
| 20 (FCD-6) | mMCD | Panel-neg | N/A | 2 m | 1.9 y | Temporo-parietal |
| 31 (FCD-17) | FCDI | Panel-neg | N/A | 4 m | 6 m | Temporal |
| 32 (FCD-5) | mMCD | Panel-neg | N/A | 11 y | 14 y | Frontal |
| 33 (FCD-8) | mMCD | Panel-neg | N/A | 2 y | 11.7 y | Insula |
| 34 (FCD-15) | mMCD | Panel-neg | N/A | 5 m | 6.7 y | Parietal |
| 35 | mMCD | Panel-neg | N/A | 8 m | 3.9 y | Fronto-insular |
| 36 | mMCD | Panel-neg | N/A | 4 y | 10 y | Frontal |
| 37 (FCD-10) | FCDI | Panel-neg | N/A | 4 y | 9.1 y | Occipital |
IDs in parentheses refer to patients previously reported in Baldassari et al.8. LOH, loss of heterozygosity; m, months; mMCD, mild malformation of cortical development with excessive heterotopic neurons; N/A, not applicable; Panel-neg, panel-negative; y, years.
aIndicates cases in which a hemispherotomy (functional disconnection of one hemisphere) was performed. In all other cases, a resection was achieved.